Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.M1L
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GRN

NM_002087.4:p.M1L

Associated Papers

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

de Rojas I et al.

Alzheimer's Research & Therapy, 2025

41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable4

Progression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech.

Garcia-Guaqueta DP et al.

Journal of Neurology, 2024

Primary Progressive Apraxia of Speech Caused by TDP-43: A Case Report.

Meade G et al.

Neurology. Genetics, 2024

A molecular pathology, neurobiology, biochemical, genetic and neuroimaging study of progressive apraxia of speech.

Josephs KA et al.

Nature Communications, 2021

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.

Gaweda-Walerych K et al.

Frontiers in Molecular Neuroscience, 2021

Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.

Staffaroni AM et al.

Jama Network Open, 2020

33112398 (PubMed )
Supplement: jamanetwopen-e2022847-s001.pdf

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.

Hosokawa M et al.

Scientific Reports, 2017

Frontotemporal Dementia and Psychiatric Illness: Emerging Clinical and Biological Links in Gene Carriers.

Block NR et al.

The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."